2010
DOI: 10.1590/s1415-47572010005000058
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Familial congenital cyanosis caused by Hb-M Yantai (α-76 GAC → TAC, Asp → Tyr)

Abstract: Methemoglobin (Hb-M) is a rare hemoglobinopathy in China. We hereby report on a family living in Yantai, East China, with congenital cyanosis due to Hb-M mutation. The proband, a 65-year-old female, presented 63% oxygen saturation. Both Hb-M concentration and arterial oxygen saturation remained unchanged, even following intravenous treatment with methylene blue. There was also no change in blood-color (chocolate-brown) after adding 0.1% KCN. A fast-moving band (Hb-X) in hemolysates was found by cellulose aceta… Show more

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Cited by 4 publications
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“…Type IV CM is rarely reported and is caused by a deficiency in cytochrome b5 (CYB 5 ) . Abnormal hemoglobins (Hbs) such as Hb‐M and Hb‐Hana also have been reported to cause CM …”
Section: Case Descriptionmentioning
confidence: 99%
“…Type IV CM is rarely reported and is caused by a deficiency in cytochrome b5 (CYB 5 ) . Abnormal hemoglobins (Hbs) such as Hb‐M and Hb‐Hana also have been reported to cause CM …”
Section: Case Descriptionmentioning
confidence: 99%